Variant Results

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Results for "GPRC6A"

Variant Events: 7

Gene Gene symbol on which the variant is located	ID Subject Identifier from the original study	Location Genomic location of the reference allele	REF Reference allele	ALT Alternate allele	Context Variant functional categories	Variant validation performed by an orthogonal method and reported	Inheritance Reported inheritance status	Effects Variant effect on transcript per Annovar	Transcript Transcript used for the cDNA/Protein mutation	cDNA cDNA variant notation	Protein Protein variant notation	CADD-Phred v1.0 CADD phred-like score. This is phred-like rank score based on whole genome CADD raw scores	ExAC v0.3 ExAC population frequency (version 0.3)	Sources Source(s) where variants from this event are reported
GPRC6A	60-4031	chr6: 117116988-117116988	G	C	exonic		Inherited	nonsynonymous SNV	NM_001286355 NM_001286354 NM_148963	c.C1346G c.C1034G c.C1559G	p.S449C p.S345C p.S520C	22.3	8.599E-6	Patowary2019 E
GPRC6A	Cukier2014:7590	chr6: 117113315-117113315	G	A	exonic		Unknown	nonsynonymous SNV	NM_001286355 NM_001286354 NM_148963	c.C2558T c.C2246T c.C2771T	p.S853L p.S749L p.S924L	14.05	0.0165	Cukier2014 E
GPRC6A	1-0976-003	chr6: 117161018-117161018	C	A	intergenic		De novo					-	-	Yuen2017 G
GPRC6A	AU4246304	chr6: 117178223-117178223	C	T	intergenic		De novo					-	-	Yuen2017 G
GPRC6A	AU3906301	chr6: 117176185-117176185	C	T	intergenic		De novo					-	-	Yuen2017 G
GPRC6A	1-0197-004	chr6: 117184455-117184455	A	T	intergenic		De novo					-	-	Yuen2017 G
GPRC6A	mAGRE4851	chr6: 117114123-117114123	G	A	exonic		Paternal	stopgain	NM_001286355 NM_001286354 NM_148963	c.C1750T c.C1438T c.C1963T	p.Q584X p.Q480X p.Q655X	23.7	8.252E-5	Cirnigliaro2023 G

Source Variant Information

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Paper Information

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Pubmed
Subject count	The number of subjects for this study could not be determined directly from the variant data; the value given is that reported by the authors in the publication.
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